Pulsating Enophthalmos as an Initial Symptom of Neurofibromatosis Type 1
Beyoglu Eye Journal, cilt.10, sa.1, ss.46-48, 2025 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 10 Sayı: 1
- Basım Tarihi: 2025
- Doi Numarası: 10.14744/bej.2025.33341
- Dergi Adı: Beyoglu Eye Journal
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.46-48
- Anahtar Kelimeler: Enophthalmos, Neurofibromatosis type 1, Phakomatoses, Sphenoid bone, Tumor supressor gene
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet
Özet
We report a neurofibromatosis type 1 (NF-1) patient with pulsating enophthalmos as the first symptom. A 25-year-old female presented to us with posterior displacement of the left eye and a headache. The patient had enophthalmos with pulsations. A slit lamp examination revealed bilateral Lisch nodules and a computed tomography scan of the orbit demonstrated aplasia of the greater wing of the sphenoid bone on the left. The patient had café-au-lait macules, a history of scoliosis, and splenectomy operations. Genetic counseling confirmed the diagnosis of NF-1. NF-1 is a multisystemic, autosomal dominant genetic disease with cutaneous, neurologic, cardiovascular, and ophthalmologic manifestations. Dysfunction of tumor suppressor gene NF-1 is the main cause. Therefore, periodic screening for tumor development is required. Since NF-1 has several neuro-ophthalmological findings, ophthalmologists can play a significant role in its diagnosis and management.